Revel Score:
ENST00000511608
0.268
ENST00000378802 (MANE Select)
0.525
ENST00000274118
0.525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209112A>T , CM000666.2:g.186209112A>T | GRCh38 |
| NC_000004.11:g.187130266A>T , CM000666.1:g.187130266A>T | GRCh37 |
| NC_000004.10:g.187367260A>T | NCBI36 |
| NG_007965.1:g.22593A>T | |
| NG_012095.2:g.5134A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1245A>T (CYP4V2) MANE Select | ENSP00000368079.4:p.Lys415Asn | |
| ENST00000378802.4:c.1245A>T (CYP4V2) | ENSP00000368079.4:p.Lys415Asn | |
| ENST00000502665.1:n.480A>T (CYP4V2) | ||
| ENST00000507209.5:n.5943A>T (CYP4V2) | ||
| ENST00000511608.5:c.41A>T (KLKB1) | ||
| ENST00000513354.5:n.335A>T (CYP4V2) | ||
| NM_207352.3:c.1245A>T (CYP4V2) | NP_997235.3:p.Lys415Asn | |
| XM_005262935.2:c.1242A>T (CYP4V2) | XP_005262992.1:p.Lys414Asn | |
| XM_006714184.2:c.849A>T (CYP4V2) | XP_006714247.1:p.Lys283Asn | |
| XM_005262935.4:c.1242A>T (CYP4V2) | XP_005262992.1:p.Lys414Asn | |
| XM_017008037.1:c.849A>T (CYP4V2) | XP_016863526.1:p.Lys283Asn | |
| NM_207352.4:c.1245A>T (CYP4V2) MANE Select | NP_997235.3:p.Lys415Asn |